Disorders of urea cycle metabolism Save
ICD-10 code: E72.2
Chapter: Endocrine, nutritional and metabolic diseases
Understanding Disorders of Urea Cycle Metabolism
The urea cycle is a process in our body that converts ammonia, a toxic waste product, into a less harmful substance called urea. This cycle takes place in the liver and involves a series of chemical reactions that are essential for maintaining the balance of nitrogen in our bodies. However, when there is a disruption in this process, it can lead to urea cycle disorders.
- Citrullinemia: This is a rare genetic disorder that affects the second step of the urea cycle. Individuals with citrullinemia have an accumulation of citrulline and ammonia in their blood, which can cause lethargy, seizures, and other neurological symptoms.
- Argininosuccinic aciduria: This disorder affects the fourth step of the urea cycle, resulting in the buildup of argininosuccinic acid and ammonia in the blood. Symptoms of argininosuccinic aciduria include vomiting, poor appetite, and developmental delays.
- Hyperammonemia: Hyperammonemia is a condition in which there is an excess of ammonia in the blood due to a disruption in the urea cycle. This can be caused by a variety of factors, including liver disease, medication, and inherited disorders.
- Ornithine transcarbamylase deficiency: This is the most common urea cycle disorder and affects the final step of the cycle. Individuals with this disorder have a deficiency of the enzyme ornithine transcarbamylase, which is needed to convert ammonia into urea. Symptoms can range from mild to severe and can include vomiting, seizures, and coma.
Diagnosis of urea cycle disorders typically involves blood and urine tests to measure levels of ammonia and other substances. Treatment often involves a combination of dietary changes, medication, and in some cases, liver transplantation.
Overall, disorders of urea cycle metabolism can have serious consequences and require prompt diagnosis and treatment. If you or a loved one is experiencing symptoms of a urea cycle disorder, it is important to seek medical attention as soon as possible.